Varaico: Literature-Extracted Genetic Variants

Gene:HINT1
Variant:p.S61T

HINT1

85 papers

RefSeq Summary

This gene encodes a protein that hydrolyzes purine nucleotide phosphoramidates substrates, including AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. Th...

Pfam Domains

HITaa 24–121UCSCHIT domain

Gene Aliases

HGNC Name

histidine triad nucleotide binding protein 1

HGNC Previous Symbol

PRKCNH1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005340.7
p.S61T
c.181T>A
Surrounding Variants
4 papers
NM_005340.7
p.S61F
c.182C>T
7 papers
NM_005340.7
p.Q62*
c.184C>T
2 papers
NM_005340.7
p.I63N
c.188T>A
1 paper
NM_005340.7
p.K58_H59insFs
c.174_175insT
3 papers
NM_005340.7
p.K57N
c.171G>T
3 papers
NM_005340.7
p.K57N
c.171G>C
1 paper
NM_005340.7
p.V54L
c.160G>T
1 paper
NM_005340.7
p.V54L
c.160G>C
1 paper
NM_005340.7
p.L53L
c.159G>A
1 paper
NM_005340.7
p.D68G
c.203A>G
3 papers
NM_005340.7
p.T50delFs
c.148_149delGT
1 paper
NM_005340.7
p.D70E
c.210T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."